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Understanding Our Genetic Inheritance
The U.S. Human Genome Project

The First Five Years: Fiscal Years 1991-1995

U.S. Department of Health and Human Services
Public Health Service
National Institutes of Health
National Center for Human Genome Research

U.S. Department of Energy
Office of Energy Research
Office of Health and Environmental Research
Human Genome Program

EXECUTIVE SUMMARY

Synopsis

[Plan Implemented October 1, 1990 (FY 1991)]

This synopsis of goals was taken from the U.S. Department of Energy Human Genome 1991-92 Program Report published June 1992.

1. Mapping and Sequencing the Human Genome

Genetic Mapping

Complete a fully connected human genetic map with markers spaced an average of 2 to 5 cM apart. Identify each marker by a sequence tagged site (STS).

Physical Mapping

Assemble STS maps of all human chromosomes with the goal of having markers spaced at approximately 100,000-bp intervals.

Generate overlapping sets of cloned DNA or closely spaced unambiguously ordered markers with continuity over lengths of 2 Mb for large parts of the human genome.

DNA Sequencing

Improve current and develop new methods for DNA sequencing that will allow large-scale sequencing of DNA at a cost of $0.50 per base pair.

Determine the sequence of an aggregate of 10 Mb of human DNA in large continuous stretches in the course of technology development and validation.

2. Model Organisms

Prepare a mouse genome genetic map based on DNA markers. Start physical mapping on one or two chromosomes.

Sequence an aggregate of about 20 Mb of DNA from a variety of model organisms, focusing on stretches that are 1 Mb long, in the course of developing and validating new and improved DNA sequencing technology.

3. Informatics--Data Collection and Analysis

Develop effective software and database designs to support large-scale mapping and sequencing projects.

Create database tools that provide easy access to up-to-date physical mapping, genetic mapping, chromosome mapping, and sequencing information and allow ready comparison of the data in these several data sets.

Develop algorithms and analytical tools that can be used in the interpretation of genomic information.

4. Ethical, Legal, and Social Considerations

Develop programs directed toward understanding the ethical, legal, and social implications of Human Genome Project data. Identify and define the major issues and develop initial policy options to address them.

5. Research Training

Support research training of pre- and postdoctoral fellows starting in FY 1990. Increase the number of trainees supported until a steady state of about 600 per year is reached by the fifth year.

Examine the need for other types of research training in the next year (FY 1991).

6. Technology Development

Support automated instrumentation and innovative and high-risk technological developments as well as improvements in current technology to meet the needs of the genome project as a whole.

7. Technology Transfer

Enhance the already close working relationships with industry.

Encourage and facilitate the transfer of technologies and of medically important information to the medical community.

The Human Genome Initiative is a worldwide research effort
with the goal of analyzing the structure of human DNA and
determining the location of the estimated 100,000 human genes. In
parallel with this effort, the DNA of a set of model organisms
will be studied to provide the comparative information necessary
for understanding the functioning of the human genome. The
information generated by the human genome project is expected to
be the source book for biomedical science in the 21st century and
will be of immense benefit to the field of medicine. It will help
us to understand and eventually treat many of the more than 4000
genetic diseases that afflict mankind, as well as the many
multifactorial diseases in which genetic predisposition plays an
important role.

A centrally coordinated project focussed on specific
objectives is believed to be the most efficient and least
expensive way of obtaining this information. In the course of the
project much new technology will be developed to facilitate a
broad range of biological and biomedical research, bring down the
cost of many experiments, and find application in numerous other
fields. The basic data produced will be collected in electronic
databases that will make the information readily accessible in
convenient form to all who need it.

This report describes the plans for the U.S. human genome
project and updates those originally prepared by the Office of
Technology Assessment (OTA) and the National Research Council
(NRC) in 1988. In the intervening two years, improvements in
technology for almost every aspect of genomics research have
taken place. As a result, more specific goals can now be set for
the project.

Five-year goals have been identified for the following areas,
which together encompass the human genome project:

Mapping and Sequencing the Human Genome

Mapping and Sequencing the Genomes of Model Organisms

Data Collection and Distribution

Ethical, Legal, and Social Considerations

Research Training

Technology Development

Technology Transfer

This plan sets out specific scientific goals to be achieved in
the first five years together with the rationale for each goal.
The specific goals will be reviewed annually and updated as
further advances in the underlying technology occur.

The plan presented here was prepared jointly by the National
Institutes of Health (NIH) and the Department of Energy (DOE),
the two agencies that have received funding earmarked for the
human genome project. Over the past two years, these agencies
have developed a highly synergistic and well-integrated approach
to carrying out this initiative, as evidenced by the adoption of
this common plan. The National Institutes of Health has a natural
interest in the Human Genome Initiative in view of its long
history of supporting research in genetics and molecular biology
as an integral part of its mission to improve the health of all
Americans. The Department of Energy has a long-standing program
of genetic research directed at improving the ability to assess
the effects of radiation and energy-related chemicals on human
health.

To achieve the scientific goals set out in this report, a
number of administrative measures have been put in place. In
addition, a newsletter, an electronic bulletin board, a
comprehensive administrative database, and other communications
tools are being set up to facilitate communication and tracking
of progress.

Research centers will be established to promote the
collaboration of investigators from diverse disciplines on a
major task of the genome program. DOE has already established
three large centers in its National Laboratories and NIH will
establish 10 to 20 additional centers over the next five years.
The centers will become foci for collaboration with investigators
at other locations and with industrial organizations that want to
develop applications of the research results, thereby creating
networks of interrelated projects.

Meetings and workshops will be organized to bring together
investigators with common research objectives and to encourage
collaboration, exchange of materials and use of common starting
materials or protocols wherever these are appropriate. It is
expected that mapping and sequencing groups will coalesce around
individual human chromosomes or around particular model
organisms.

NIH and DOE will continue their synergistic working
relationship and will also interact closely with other interested
agencies, as well as with genome mapping programs in other
countries as they get organized. Close ties with industry and
with the medical community have been established, and will
continue to be encouraged, to ensure efficient technology
transfer. The private sector is involved in this project at all
levels from participation in the advisory committees to receipt
of grants and contracts.

The overall budget needs for the effort are still anticipated
to be the same as those identified by the OTA and the NRC, namely
about $200 million per year for approximately 15 years. Fiscal
years 1988 to 1990 have been a period for getting organized and
getting research under way. The five-year goals specified in this
plan are for the period FY 1991 through FY 1995 and assume the
program will rapidly reach the level of funding specified above.

Human Genome Project 1990–2003

The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.

Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.

Citation and Credit

Unless otherwise noted, publications and webpages on this site were created for the U.S. Department of Energy Human Genome Project program and are in the public domain. Permission to use these documents is not needed, but credit the U.S. Department of Energy Human Genome Project and provide the URL http://www.ornl.gov/hgmis when using them. Materials provided by third parties are identified as such and not available for free use.